Abstract

Background: Thrombotic thrombocytopenic purpura (TTP) is a common form
of thrombotic microangiopathy. These patients have renal insufficiency as
well as thrombocytopenia and microangiopathic hemolysis.

Objectives: The present study was aimed to assess if TTP patients with renal failure have
prompting polymorphisms in the complement system genes as seen in patients with the
atypical hemolytic uremic syndrome (aHUS).

Patients and Methods: Twenty TTP patients and 30 healthy individuals were included. Two
single-nucleotide polymorphisms rs3753394 and rs2230199 respectively in the complement
factor H (CFH) and complement component 3 (C3) genes were determined using the PCRrestriction
fragment length polymorphism (RFLP) method. To evaluate the power of the
associations between the polymorphisms and TTP development, odds ratios (ORs) and
95% confidence intervals (CIs) were employed.

Results: In rs2230199 polymorphism, the frequency of the C and G alleles and genotype
were not significantly different in case and control groups. Moreover, the frequency of T
allele and CC, CT, and TT genotypes of the rs3753394 polymorphism in TTP patients were
not significantly different from those in the controls, the OR of 0.77 [CI: 0.33 to 1.79] and
0.76 [CI: 0.24 to 2.38], respectively (P > 0.05).

Conclusions: Based on our results, there was no significant association between the incidence
of TTP and polymorphisms of the CFH and C3 genes, neither at the allele nor at the
genotypic levels (P > 0.05). This finding can be affected by the limited sample size or the
genetic context of the studied population.

In the present study we aimed to examine the impact of the complement factor genes polymorphisms (CFH and C3 genes)
in TTP patients. No significant association was found between the incidence of TTP and polymorphisms of the CFH and C3
genes, neither at the allele nor at the genotypic levels.